TSES
MCID: GNT033
MIFTS: 26

Genetic Prion Diseases (TSES) malady

Category: Genetic diseases (common)

Aliases & Classifications for Genetic Prion Diseases

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Aliases & Descriptions for Genetic Prion Diseases:

Name: Genetic Prion Diseases 23 24 27
Transmissible Spongiform Encephalopathies 23 24 49 2
 
Prion Diseases 68
Tses 23

Characteristics:

GeneReviews:

23
Penetrance: the prnp pathogenic variants p.glu200lys and p.val210ile are commonly associated with a variable but generally age-dependent penetrance such that the older the individual, the greater likelihood of his/her manifesting the disease. thus, it is not uncommon to encounter a situation in which the parents and other relatives of an affected individual may be unaffected but have a prnp pathogenic variant [kovács et al 2005]. interestingly, the p.val180ile variant appears to occur almost exclusively in individuals presenting with cjd in later life [kovács et al 2005]...


Classifications:



Summaries for Genetic Prion Diseases

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CDC:2 Prion diseases or transmissible spongiform encephalopathies (TSEs) are a family of rare progressive neurodegenerative disorders that affect both humans and animals. They are distinguished by long incubation periods, characteristic spongiform changes associated with neuronal loss, and a failure to induce inflammatory response.

MalaCards based summary: Genetic Prion Diseases, also known as transmissible spongiform encephalopathies, is related to prion disease and fancf-related fanconi anemia. An important gene associated with Genetic Prion Diseases is PRNP (Prion Protein), and among its related pathways is Neuroscience. Affiliated tissues include brain, and related mouse phenotypes are endocrine/exocrine gland and muscle.

NINDS:49 Transmissible spongiform encephalopathies (TSEs), also known as prion diseases, are a group of rare degenerative brain disorders characterized by tiny holes that give the brain a "spongy" appearance. These holes can be seen when brain tissue is viewed under a microscope.

GeneReviews for NBK1229

Related Diseases for Genetic Prion Diseases

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Graphical network of diseases related to Genetic Prion Diseases:



Diseases related to genetic prion diseases

Symptoms & Phenotypes for Genetic Prion Diseases

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MGI Mouse Phenotypes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.3APOE, HLA-DQB1, PRNP
2MP:00053699.3APOE, HLA-DQB1, PRNP
3MP:00053898.5APOE, HLA-DQB1, PRNP

Drugs & Therapeutics for Genetic Prion Diseases

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Genetic Characterization of Movement Disorders and DementiasRecruitingNCT02014246

Search NIH Clinical Center for Genetic Prion Diseases

Genetic Tests for Genetic Prion Diseases

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Genetic tests related to Genetic Prion Diseases:

id Genetic test Affiliating Genes
1 Genetic Prion Diseases27 24 PRNP

Anatomical Context for Genetic Prion Diseases

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MalaCards organs/tissues related to Genetic Prion Diseases:

36
Brain

Publications for Genetic Prion Diseases

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Articles related to Genetic Prion Diseases:

(show all 23)
idTitleAuthorsYear
1
Genetic Prion Disease Caused by PRNP Q160X Mutation Presenting with an Orbitofrontal Syndrome, Cyclic Diarrhea, and Peripheral Neuropathy. (27716661)
2017
2
Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature. (27943639)
2017
3
Transgenic mice recapitulate the phenotypic heterogeneity of genetic prion diseases without developing prion infectivity: Role of intracellular PrP retention in neurotoxicity. (26864450)
2016
4
Correction: PrPST, a Soluble, Protease Resistant and Truncated PrP Form Features in the Pathogenesis of a Genetic Prion Disease. (26193641)
2015
5
The Features of Genetic Prion Diseases Based on Chinese Surveillance Program. (26488179)
2015
6
Clinical findings and diagnosis in genetic prion diseases in Germany. (26076917)
2015
7
Presence of voltage-gated potassium channel complex antibody in a case of genetic prion disease. (24903967)
2014
8
Genetic prion disease: no role for the immune system in disease pathogenesis? (25239861)
2014
9
Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: An arterial spin labeling MRI study. (25220284)
2014
10
Ascertainment bias causes false signal of anticipation in genetic prion disease. (25279981)
2014
11
Reversible symptoms and clearance of mutant prion protein in an inducible model of a genetic prion disease in Drosophila melanogaster. (24686303)
2014
12
Epitope scanning indicates structural differences in brain-derived monomeric and aggregated mutant prion proteins related to genetic prion diseases. (23808898)
2013
13
Relationships between clinicopathological features and cerebrospinal fluid biomarkers in Japanese patients with genetic prion diseases. (23555862)
2013
14
PrP(ST), a soluble, protease resistant and truncated PrP form features in the pathogenesis of a genetic prion disease. (23922744)
2013
15
Activation of the macroautophagic system in scrapie-infected experimental animals and human genetic prion diseases. (22874564)
2012
16
Copper is toxic to PrP-ablated mice and exacerbates disease in a mouse model of E200K genetic prion disease. (22198568)
2012
17
Genetic prion disease-associated myelodysplasia and SIADH in siblings. (22097952)
2011
18
Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. (21232818)
2011
19
Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity. (21293298)
2011
20
ApoE distribution and family history in genetic prion diseases in Germany. (18157657)
2008
21
Genetic prion disease: the EUROCJD experience. (16187142)
2005
22
Transmissible and genetic prion diseases share a common pathway of neurodegeneration. (10617204)
1999
23
Genetic Prion Diseases (20301407)
1993

Variations for Genetic Prion Diseases

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Expression for genes affiliated with Genetic Prion Diseases

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Search GEO for disease gene expression data for Genetic Prion Diseases.

Pathways for genes affiliated with Genetic Prion Diseases

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Pathways related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0APOE, PRNP

GO Terms for genes affiliated with Genetic Prion Diseases

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Cellular components related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1clathrin-coated endocytic vesicle membraneGO:00306699.8APOE, HLA-DQB1
2dendriteGO:00304259.0APOE, PRNP

Biological processes related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of long-term synaptic potentiationGO:19002729.6APOE, PRNP
2response to oxidative stressGO:00069799.0APOE, PRNP

Molecular functions related to Genetic Prion Diseases according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1beta-amyloid bindingGO:00015409.0APOE, PRNP

Sources for Genetic Prion Diseases

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet